A590G-F1

**Figure 1\. Pedigree diagram for family A590G\-F1\.**

![](/media/202607/A590G-F1-pedigree_20260701022917466644.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 590 | m.590A\>G | A590G\-F1 | France | Static cerebellar ataxia, exercise intolerance, retinitis pigmentosa | 2 | 0 | 2020 | [32419253](https://pubmed.ncbi.nlm.nih.gov/32419253/) |  |

The **m.590A\>G** variant in MT\-TF was reported in family A590G\-F1 from France with static cerebellar ataxia, exercise intolerance, retinitis pigmentosa. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was static cerebellar ataxia, exercise intolerance, retinitis pigmentosa.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 590 | m.590A\>G | A590G\-F1 | A590G\-F1\-I2 | Uninf | F | N | N | A | ND | \<5% | / | 0% | 0% (BM) | Healthy |  |
| 2 | 590 | m.590A\>G | A590G\-F1 | A590G\-F1\-II1 | Fam | F | N | N | A | ND | 0% | / | 0% | 0% (BM) | Healthy |  |
| 3 | 590 | m.590A\>G | A590G\-F1 | A590G\-F1\-II2 | Fam | F | Y | Y | A | 43 | 0% | 92% | 0% | 0% (BM) | Static cerebellar ataxia, exercise intolerance, retinitis pigmentosa |  |

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